LOCUS       NM_133999               3278 bp    mRNA    linear   ROD 02-JUN-2024
DEFINITION  Mus musculus FIG4 phosphoinositide 5-phosphatase (Fig4), mRNA.
ACCESSION   NM_133999
VERSION     NM_133999.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 3278)
  AUTHORS   Cao,X., Lenk,G.M. and Meisler,M.H.
  TITLE     Altered phenotypes due to genetic interaction between the mouse
            phosphoinositide biosynthesis genes Fig4 and Pip4k2c
  JOURNAL   G3 (Bethesda) 13 (8) (2023)
   PUBMED   36691351
  REMARK    GeneRIF: Altered phenotypes due to genetic interaction between the
            mouse phosphoinositide biosynthesis genes Fig4 and Pip4k2c.
REFERENCE   2  (bases 1 to 3278)
  AUTHORS   Cao,X., Lenk,G.M., Mikusevic,V., Mindell,J.A. and Meisler,M.H.
  TITLE     The chloride antiporter CLCN7 is a modifier of lysosome dysfunction
            in FIG4 and VAC14 mutants
  JOURNAL   PLoS Genet 19 (6), e1010800 (2023)
   PUBMED   37363915
  REMARK    GeneRIF: The chloride antiporter CLCN7 is a modifier of lysosome
            dysfunction in FIG4 and VAC14 mutants.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3278)
  AUTHORS   Bedogni,F. and Hevner,R.F.
  TITLE     Cell-Type-Specific Gene Expression in Developing Mouse Neocortex:
            Intermediate Progenitors Implicated in Axon Development
  JOURNAL   Front Mol Neurosci 14, 686034 (2021)
   PUBMED   34321999
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3278)
  AUTHORS   Presa,M., Bailey,R.M., Davis,C., Murphy,T., Cook,J., Walls,R.,
            Wilpan,H., Bogdanik,L., Lenk,G.M., Burgess,R.W., Gray,S.J. and
            Lutz,C.
  TITLE     AAV9-mediated FIG4 delivery prolongs life span in
            Charcot-Marie-Tooth disease type 4J mouse model
  JOURNAL   J Clin Invest 131 (11) (2021)
   PUBMED   33878035
  REMARK    GeneRIF: AAV9-mediated FIG4 delivery prolongs life span in
            Charcot-Marie-Tooth disease type 4J mouse model.
REFERENCE   5  (bases 1 to 3278)
  AUTHORS   Mironova,Y.A., Lin,J.P., Kalinski,A.L., Huffman,L.D., Lenk,G.M.,
            Havton,L.A., Meisler,M.H. and Giger,R.J.
  TITLE     Protective role of the lipid phosphatase Fig4 in the adult nervous
            system
  JOURNAL   Hum Mol Genet 27 (14), 2443-2453 (2018)
   PUBMED   29688489
  REMARK    GeneRIF: in the adult PNS Fig4 is required to protect myelinated
            axons from Wallerian degeneration. In the adult CNS, Fig4 is
            dispensable for fiber stability and nerve conduction, but is
            required for the timely repair of damaged white matter. The greater
            vulnerability of the PNS to Fig4 deficiency in the mouse is
            consistent with clinical observations in patients with
            Charcot-Marie-Tooth disease.
REFERENCE   6  (bases 1 to 3278)
  AUTHORS   Katona,I., Zhang,X., Bai,Y., Shy,M.E., Guo,J., Yan,Q., Hatfield,J.,
            Kupsky,W.J. and Li,J.
  TITLE     Distinct pathogenic processes between Fig4-deficient motor and
            sensory neurons
  JOURNAL   Eur J Neurosci 33 (8), 1401-1410 (2011)
   PUBMED   21410794
  REMARK    GeneRIF: Results suggest that Fig4 deficiency affects motor neurons
            differently from sensory neurons by mechanisms involving excessive
            retention of molecules in lysosomes or disruption of vacuolated
            organelles.
REFERENCE   7  (bases 1 to 3278)
  AUTHORS   Ikonomov,O.C., Sbrissa,D., Fligger,J., Delvecchio,K. and
            Shisheva,A.
  TITLE     ArPIKfyve regulates Sac3 protein abundance and turnover: disruption
            of the mechanism by Sac3I41T mutation causing Charcot-Marie-Tooth
            4J disorder
  JOURNAL   J Biol Chem 285 (35), 26760-26764 (2010)
   PUBMED   20630877
  REMARK    GeneRIF: a novel regulatory mechanism whereby ArPIKfyve enhances
            Sac3 abundance by attenuating Sac3 proteasome-dependent degradation
            and suggest that a failure of this mechanism could be the primary
            molecular defect in the pathogenesis of CMT4J.
REFERENCE   8  (bases 1 to 3278)
  AUTHORS   Ferguson,C.J., Lenk,G.M. and Meisler,M.H.
  TITLE     Defective autophagy in neurons and astrocytes from mice deficient
            in PI(3,5)P2
  JOURNAL   Hum Mol Genet 18 (24), 4868-4878 (2009)
   PUBMED   19793721
REFERENCE   9  (bases 1 to 3278)
  AUTHORS   Ikonomov,O.C., Sbrissa,D., Ijuin,T., Takenawa,T. and Shisheva,A.
  TITLE     Sac3 is an insulin-regulated phosphatidylinositol 3,5-bisphosphate
            phosphatase: gain in insulin responsiveness through Sac3
            down-regulation in adipocytes
  JOURNAL   J Biol Chem 284 (36), 23961-23971 (2009)
   PUBMED   19578118
  REMARK    GeneRIF: Sac3 as an insulin-sensitive phosphatase whose
            down-regulation increases insulin responsiveness, thus implicating
            Sac3 as a novel drug target in insulin resistance.
REFERENCE   10 (bases 1 to 3278)
  AUTHORS   Chow,C.Y., Zhang,Y., Dowling,J.J., Jin,N., Adamska,M., Shiga,K.,
            Szigeti,K., Shy,M.E., Li,J., Zhang,X., Lupski,J.R., Weisman,L.S.
            and Meisler,M.H.
  TITLE     Mutation of FIG4 causes neurodegeneration in the pale tremor mouse
            and patients with CMT4J
  JOURNAL   Nature 448 (7149), 68-72 (2007)
   PUBMED   17572665
  REMARK    GeneRIF: The pale tremor mutant provides the first evidence
            regarding the functional role of mammalian Fig4
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC015295.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC015295.1, AK041196.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3278
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="FVB/N"
                     /db_xref="taxon:10090"
                     /chromosome="10"
                     /map="10 22.08 cM"
     gene            1..3278
                     /gene="Fig4"
                     /gene_synonym="A530089I17Rik; Sac3"
                     /note="FIG4 phosphoinositide 5-phosphatase"
                     /db_xref="GeneID:103199"
                     /db_xref="MGI:MGI:2143585"
     exon            1..255
                     /gene="Fig4"
                     /gene_synonym="A530089I17Rik; Sac3"
                     /inference="alignment:Splign:2.1.0"
     CDS             190..2913
                     /gene="Fig4"
                     /gene_synonym="A530089I17Rik; Sac3"
                     /EC_number="3.1.3.16"
                     /EC_number="3.1.3.36"
                     /EC_number="3.1.3.86"
                     /note="Sac domain-containing inositol phosphatase 3; SAC
                     domain-containing protein 3; phosphatidylinositol
                     3,5-bisphosphate 5-phosphatase; FIG4 homolog;
                     serine-protein phosphatase FIG4"
                     /codon_start=1
                     /product="polyphosphoinositide phosphatase"
                     /protein_id="NP_598760.1"
                     /db_xref="CCDS:CCDS23803.1"
                     /db_xref="GeneID:103199"
                     /db_xref="MGI:MGI:2143585"
                     /translation="MPTAAAPIISSVQKLVLYETRARYFLVGSNHAETKYRVLKIDRT
                     EPKDLVVIDDRHVYTQQEVRELLGRLDLGNRTKMSQKGSSGLFRAVSAFGVVGFVRFL
                     EGYYIVLITKRRKMADIGGHAIYKIEDTSMIYIPNDSVRISHPDEARYLRIFQNVDLS
                     SNFYFSYSYDLSHSLQYNLTVLRMPLEMLKSETSKACQESFDIFEDEGLITQGGSGVF
                     GISSEPYMKYVWNGELLDIIKNTVHRDWLLYIIHGFCGQSKLLIYGRPVYVTLIARRS
                     SRFAGTRFLKRGANCEGDVANEVETEQILCDASVMSFTAGSYSSYVQVRGSVPLFWSQ
                     DISTMMPKPPITLDQADPFAHVAALHFDQMLQRFGSPIIILNLVKEREKRKHERILSE
                     ELVAAVTYLNQFLPPEHTIVYIPWDMAKYTKSKLCNVLDRLNVIAESVVKKTGFFVNR
                     PDSYCSILRPDEKWNELGGHVIPTGRLQTGILRTNCVDCLDRTNTAQFMVGKCALAYQ
                     LYSLGLIDKPNLQFDTDAVRLFEELYEDHGDTLSLQYGGSQLVHRVKTYRKIAPWTQH
                     SKDIMQTLSRYYSNAFSDADRQDSINLFLGVFHPTEGKPHLWELPTDFYLHHKNTMSL
                     LPPRRSYTYWWTPEVVKHLPLPYDEVICAANLKKLMVKKFHRWEEEIDIHNEFFRPYE
                     LSSFDDTFCLAMTSSARDFMPKTVGIDPSPFTVRKPDETGKSVLGNKNTREEAVLQRK
                     TAASAPPPPSEEAVSSSSEDDSGTDREDEGSISQRSTPVKMTDTGDSAKATENVVQPM
                     KEVYGVSLSSSLSEEDHSIYARFVQLGQSQHKQDRGNQQLCSRCSDGVIKLTPISAFS
                     QDNIYEVQPPRVDRKSTEIFQAHIQASQGIMQPLGKEDTAMYREYIRNRYL"
     exon            256..354
                     /gene="Fig4"
                     /gene_synonym="A530089I17Rik; Sac3"
                     /inference="alignment:Splign:2.1.0"
     exon            355..478
                     /gene="Fig4"
                     /gene_synonym="A530089I17Rik; Sac3"
                     /inference="alignment:Splign:2.1.0"
     exon            479..635
                     /gene="Fig4"
                     /gene_synonym="A530089I17Rik; Sac3"
                     /inference="alignment:Splign:2.1.0"
     exon            636..686
                     /gene="Fig4"
                     /gene_synonym="A530089I17Rik; Sac3"
                     /inference="alignment:Splign:2.1.0"
     exon            687..835
                     /gene="Fig4"
                     /gene_synonym="A530089I17Rik; Sac3"
                     /inference="alignment:Splign:2.1.0"
     exon            836..964
                     /gene="Fig4"
                     /gene_synonym="A530089I17Rik; Sac3"
                     /inference="alignment:Splign:2.1.0"
     exon            965..1065
                     /gene="Fig4"
                     /gene_synonym="A530089I17Rik; Sac3"
                     /inference="alignment:Splign:2.1.0"
     exon            1066..1228
                     /gene="Fig4"
                     /gene_synonym="A530089I17Rik; Sac3"
                     /inference="alignment:Splign:2.1.0"
     exon            1229..1326
                     /gene="Fig4"
                     /gene_synonym="A530089I17Rik; Sac3"
                     /inference="alignment:Splign:2.1.0"
     exon            1327..1460
                     /gene="Fig4"
                     /gene_synonym="A530089I17Rik; Sac3"
                     /inference="alignment:Splign:2.1.0"
     exon            1461..1577
                     /gene="Fig4"
                     /gene_synonym="A530089I17Rik; Sac3"
                     /inference="alignment:Splign:2.1.0"
     exon            1578..1623
                     /gene="Fig4"
                     /gene_synonym="A530089I17Rik; Sac3"
                     /inference="alignment:Splign:2.1.0"
     exon            1624..1772
                     /gene="Fig4"
                     /gene_synonym="A530089I17Rik; Sac3"
                     /inference="alignment:Splign:2.1.0"
     exon            1773..1939
                     /gene="Fig4"
                     /gene_synonym="A530089I17Rik; Sac3"
                     /inference="alignment:Splign:2.1.0"
     exon            1940..2078
                     /gene="Fig4"
                     /gene_synonym="A530089I17Rik; Sac3"
                     /inference="alignment:Splign:2.1.0"
     exon            2079..2137
                     /gene="Fig4"
                     /gene_synonym="A530089I17Rik; Sac3"
                     /inference="alignment:Splign:2.1.0"
     exon            2138..2285
                     /gene="Fig4"
                     /gene_synonym="A530089I17Rik; Sac3"
                     /inference="alignment:Splign:2.1.0"
     exon            2286..2369
                     /gene="Fig4"
                     /gene_synonym="A530089I17Rik; Sac3"
                     /inference="alignment:Splign:2.1.0"
     exon            2370..2565
                     /gene="Fig4"
                     /gene_synonym="A530089I17Rik; Sac3"
                     /inference="alignment:Splign:2.1.0"
     exon            2566..2648
                     /gene="Fig4"
                     /gene_synonym="A530089I17Rik; Sac3"
                     /inference="alignment:Splign:2.1.0"
     exon            2649..2735
                     /gene="Fig4"
                     /gene_synonym="A530089I17Rik; Sac3"
                     /inference="alignment:Splign:2.1.0"
     exon            2736..3263
                     /gene="Fig4"
                     /gene_synonym="A530089I17Rik; Sac3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3242..3247
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Fig4"
                     /gene_synonym="A530089I17Rik; Sac3"
                     /note="hexamer: AATAAA"
     polyA_site      3263
                     /gene="Fig4"
                     /gene_synonym="A530089I17Rik; Sac3"
                     /note="major polyA site"
ORIGIN      
        1 gggaatccgg aagcagccgg cgagcccgct gctgaacgtt tggtgttctg acactgtttt
       61 tgtcagctgt gtctggtgtg ctggaggtct gcggggtctc ctcgctctgt ctccaggggg
      121 aaccccgccg ctgtcacgac ctgggccgcg gcctggtgcc ctgtggcggg gccgccattg
      181 gctggagcca tgcccacggc cgctgccccc atcatcagct cggtccagaa gctggtgctg
      241 tatgagacca gagctagata ctttctagtt gggagcaatc atgcagaaac gaagtaccgt
      301 gtcctgaaaa ttgatagaac agaaccgaag gacttggtgg taatcgacga caggcacgtg
      361 tacacacaac aagaagtgag ggaacttctt ggccgcctgg atctgggaaa cagaacaaag
      421 atgagccaga aaggatcctc cgggttgttt cgagccgtct cagcttttgg agtcgtaggt
      481 tttgtcaggt tcttagaagg ctactatatt gtattaataa ctaagcggag gaagatggca
      541 gacattggag gtcatgcaat ttataagatt gaagatacaa gtatgattta tatccccaat
      601 gactctgttc ggatttctca ccccgacgaa gctaggtatc taaggatatt tcaaaatgtg
      661 gatctatcta gcaattttta ctttagttac agctatgatt tgtcacactc acttcagtat
      721 aatcttaccg tcctgcgaat gcccctggag atgttaaagt cagaaacatc caaggcgtgc
      781 caggagagct tcgacatctt tgaagatgaa ggattaatta cacagggtgg cagtggtgta
      841 tttgggatct ctagtgagcc ttatatgaag tatgtatgga acggtgaact tctggatata
      901 attaaaaaca ctgtgcatcg tgactggcta ttgtatatca ttcatgggtt ctgcgggcag
      961 tccaagcttt tgatctatgg acgaccagtg tatgtgaccc taatagccag gagatccagt
     1021 aggtttgctg ggacgcgctt tctcaagaga ggcgcaaact gtgagggtga cgttgcaaat
     1081 gaggtggaga ccgagcagat cctctgtgat gcttctgtga tgtcttttac cgcaggcagt
     1141 tactcttctt acgtacaagt tagaggatcc gttcccttat tctggtccca agacatctca
     1201 actatgatgc cgaaaccacc cattacactg gaccaggcgg atccctttgc acacgtggct
     1261 gctcttcact ttgaccagat gctccagagg ttcggctccc ccatcatcat cttgaactta
     1321 gtgaaggaga gggagaagag aaagcacgaa aggatcctga gtgaagagct ggtggctgcg
     1381 gtcacttacc tgaaccagtt cctgccaccg gagcacacca ttgtctacat cccctgggac
     1441 atggccaagt acaccaagag taagctgtgc aacgttctcg atcggctgaa tgtgattgcg
     1501 gaaagcgtgg taaagaagac aggattcttt gtaaaccgcc ctgattctta ctgcagcatt
     1561 ttacggccag atgaaaagtg gaatgaacta ggaggtcatg tgattcccac tggtcggctc
     1621 cagactggca tccttcgaac caactgtgtg gactgtttgg atcgcaccaa cactgcgcag
     1681 ttcatggtgg gcaagtgtgc cctggcttac cagctgtatt ccttagggct gattgacaag
     1741 cctaacctgc agttcgacac ggatgcagtg aggttgtttg aggaactcta tgaagaccat
     1801 ggagacaccc tttccctgca gtacggaggc tctcagctgg ttcatcgggt aaagacctac
     1861 agaaagatag caccgtggac ccagcactcc aaggacatca tgcagactct gtcccggtac
     1921 tacagcaacg ccttctcgga tgctgataga caagattcca tcaacctgtt tttgggtgtt
     1981 ttccacccca cagaagggaa acctcatctc tgggaactcc ccacagactt ttacctccat
     2041 cacaaaaaca ccatgagcct tttacccccc agaaggagtt atacttactg gtggacgcca
     2101 gaggtggtga agcatctgcc gctgccttac gatgaagtta tctgtgctgc aaacttaaag
     2161 aagttgatgg tgaagaaatt tcacagatgg gaagaagaga ttgatattca caatgagttc
     2221 ttccggccgt atgaattgag tagttttgat gacacctttt gcttggccat gacaagttca
     2281 gcacgtgatt ttatgcctaa aactgttggc attgatccaa gtccatttac cgtgcgaaaa
     2341 ccagatgaaa ctggaaaatc tgtactgggg aacaaaaaca ctagagagga agctgtcctg
     2401 cagcggaaga cggcagccag cgccccgcca cccccgagcg aggaggctgt gtccagcagc
     2461 tctgaggatg actctggcac cgaccgggaa gatgaaggct ccatctctca gcgatccact
     2521 cctgtgaaga tgactgacac gggagacagt gccaaagcga ctgagaatgt ggtccagccc
     2581 atgaaggaag tgtatggagt cagtctctcc agtagcctgt cagaggagga tcactccatt
     2641 tatgccaggt ttgttcagct ggggcaaagt caacataaac aggaccgagg taaccagcag
     2701 ctgtgttccc gttgctcaga tggagttata aaactaactc ccatctcagc tttctcgcaa
     2761 gacaacattt atgaagttca gcctccaaga gtagacagaa agtctacaga gatcttccag
     2821 gcccatatcc aagctagcca aggtatcatg cagccccttg gcaaagagga cactgccatg
     2881 taccgggagt acatcagaaa ccgctactta tagagacggc ctcgaggaca gtgtcctctg
     2941 tgagaaggcg tgccccagat cctgagatgc agctcattgg taaaggactc cccagcacct
     3001 gtatcacagc cttcggtgat tccagctacc aggaatccag tgttgtcttc cagattttgt
     3061 aggcacctat actcaagtag gtgcctgtgt gtgcacacac atgcacagga gtgcatacac
     3121 acacatgtat gcacacacac agtaaaaata ataaaagtaa aatctttaaa aatcaattca
     3181 tccaaatcat gtatctgaaa cttttcacct ctttgtacca tgcaaatgac taattgcagg
     3241 taataaagaa atgctgcctc tttaaaaaaa aaaaaaaa
//
